Canonical Allele Identifier: CA1979444534
Gene: EFEMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868505T= , CM000673.2:g.65868505T= GRCh38
NC_000011.9:g.65635976T= , CM000673.1:g.65635976T= GRCh37
NC_000011.8:g.65392552T= NCBI36
NG_012304.2:g.9430A=
NG_053116.1:g.13444T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.847+5A= MANE Select ENSP00000309953.6:n.847+5A=
ENST00000307998.10:c.847+5A= ENSP00000309953.6:n.847+5A=
ENST00000526628.5:n.1413+5A=
ENST00000527969.1:n.1537A=
ENST00000528176.5:c.847+5A= ENSP00000434151.1:n.847+5A=
ENST00000528409.1:n.8A=
ENST00000530806.5:c.-152+5A= ENSP00000436526.1:n.-152+5A=
ENST00000531005.5:n.1841+5A=
ENST00000531972.5:c.847+5A= ENSP00000435295.1:n.847+5A=
ENST00000532084.5:n.273+5A=
NM_016938.4:c.847+5A= NP_058634.4:n.847+5A=
NR_037718.1:n.1106+5A=
NM_016938.5:c.847+5A= MANE Select NP_058634.4:n.847+5A=
NR_037718.2:n.972+5A=